PPP1R14D
Description
The PPP1R14D (protein phosphatase 1 regulatory inhibitor subunit 14D) is a protein-coding gene located on chromosome 15.
PPP1R14D acts as an inhibitor of PPP1CA, but only when it is phosphorylated. This phosphorylation creates a molecular switch, allowing PPP1R14D to control the phosphorylation state of PPP1CA substrates and influence smooth muscle contraction.
PPP1R14D is also known as CPI17-like, GBPI-1, GBPI1.
Associated Diseases
- alpha thalassemia-intellectual disability syndrome type 1
- hemoglobin D disease
- Heinz body anemia
- delta-beta-thalassemia
- IRIDA syndrome
- hemoglobin C-beta-thalassemia syndrome
- overhydrated hereditary stomatocytosis
- Rh deficiency syndrome
- pyropoikilocytosis, hereditary
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
- thrombocytopenia with congenital dyserythropoietic anemia
- orotic aciduria